Variant report

Variant	esv1845478
Chromosome Location	chr11:5882369-5946374
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:292)
CpG islands
(count:123)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:5912497-5912707	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:5912394-5912741	K562	blood:	n/a	n/a
3	ATF1	chr11:5893901-5893919	K562	blood:	n/a	n/a
4	BATF	chr11:5944337-5944642	GM12878	blood:	n/a	chr11:5944501-5944512
5	BATF	chr11:5944353-5944624	GM12878	blood:	n/a	chr11:5944501-5944512
6	BCL11A	chr11:5944350-5944565	GM12878	blood:	n/a	n/a
7	CEBPB	chr11:5910666-5910889	IMR90	lung:	n/a	n/a
8	CEBPB	chr11:5921253-5921539	HepG2	liver:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
9	CEBPB	chr11:5945178-5945285	K562	blood:	n/a	n/a
10	CEBPB	chr11:5921286-5921537	IMR90	lung:	n/a	chr11:5921407-5921420 chr11:5921407-5921420 chr11:5921407-5921418 chr11:5921407-5921418 chr11:5921407-5921420
11	CEBPB	chr11:5918399-5918459	IMR90	lung:	n/a	n/a
12	CHD2	chr11:5908965-5908994	HepG2	liver:	n/a	n/a
13	CTCF	chr11:5912520-5912670	AG09319	gingival:	n/a	n/a
14	CTCF	chr11:5912520-5912670	AG10803	skin:	n/a	n/a
15	CTCF	chr11:5911866-5913034	A549	lung:	n/a	n/a
16	CTCF	chr11:5912640-5912790	HCM	heart:	n/a	n/a
17	CTCF	chr11:5912640-5912790	GM12865	blood:	n/a	n/a
18	CTCF	chr11:5912540-5912690	NHEK	skin:	n/a	n/a
19	CTCF	chr11:5912600-5912750	NHDF-neo	bronchial:	n/a	n/a
20	CTCF	chr11:5912520-5912670	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr11:5912740-5912890	HAc	cerebellar:	n/a	n/a
22	CTCF	chr11:5912560-5912710	AG04450	lung:	n/a	n/a
23	CTCF	chr11:5912680-5912830	SAEC	small airway:	n/a	n/a
24	CTCF	chr11:5912500-5912650	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr11:5901160-5901310	WI-38	lung:	n/a	n/a
26	CTCF	chr11:5912527-5912658	HepG2	liver:	n/a	n/a
27	CTCF	chr11:5912620-5912770	WI-38	lung:	n/a	n/a
28	CTCF	chr11:5912480-5912630	HA-sp	spinal cord:	n/a	n/a
29	CTCF	chr11:5912802-5912984	GM19238	blood:	n/a	n/a
30	CTCF	chr11:5912860-5913010	GM12873	blood:	n/a	n/a
31	CTCF	chr11:5912800-5912950	HepG2	liver:	n/a	n/a
32	CTCF	chr11:5912360-5912510	HAc	cerebellar:	n/a	n/a
33	CTCF	chr11:5912580-5912730	GM12872	blood:	n/a	n/a
34	CTCF	chr11:5912812-5912846	Gliobla	brain:	n/a	n/a
35	CTCF	chr11:5912560-5912710	Caco-2	colon:	n/a	n/a
36	CTCF	chr11:5912540-5912690	AG09319	gingival:	n/a	n/a
37	CTCF	chr11:5912880-5913030	GM12868	blood:	n/a	n/a
38	CTCF	chr11:5912873-5912903	Gliobla	brain:	n/a	n/a
39	CTCF	chr11:5912560-5912710	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr11:5912540-5912690	GM12864	blood:	n/a	n/a
41	CTCF	chr11:5912520-5912670	AoAF	blood vessel:	n/a	n/a
42	CTCF	chr11:5912537-5912620	GM13976	blood:	n/a	n/a
43	CTCF	chr11:5912520-5912670	GM12874	blood:	n/a	n/a
44	CTCF	chr11:5912560-5912710	A549	lung:	n/a	n/a
45	CTCF	chr11:5912500-5912650	GM12872	blood:	n/a	n/a
46	CTCF	chr11:5912848-5912861	Gliobla	brain:	n/a	n/a
47	CTCF	chr11:5912840-5912990	GM12865	blood:	n/a	n/a
48	CTCF	chr11:5912460-5912750	K562	blood:	n/a	n/a
49	CTCF	chr11:5912420-5912570	NHLF	lung:	n/a	n/a
50	CTCF	chr11:5912560-5912710	NHEK	skin:	n/a	n/a

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5905892-5905942	BJ	skin:	n/a
2	chr11:5905892-5905942	BJ	skin:	n/a
3	chr11:5905350-5905400	K562	blood:	n/a
4	chr11:5905892-5905942	AG09309	skin:	n/a
5	chr11:5905350-5905400	NHBE	bronchial:	n/a
6	chr11:5905892-5905942	SAEC	small airway:	n/a
7	chr11:5905892-5905942	AG10803	skin:	n/a
8	chr11:5905350-5905400	HMEC	breast:	n/a
9	chr11:5905892-5905942	HAEpiC	amniotic membrane:	n/a
10	chr11:5905350-5905400	BE2_C	brain:	n/a
11	chr11:5905892-5905942	ProgFib	skin:	n/a
12	chr11:5905350-5905400	SK-N-SH_RA	brain:	n/a
13	chr11:5905892-5905942	PFSK-1	brain:	n/a
14	chr11:5905350-5905400	Hela-S3	cervix:	n/a
15	chr11:5905892-5905942	NHDF-neo	bronchial:	n/a
16	chr11:5905350-5905400	H1-hESC	embryonic stem cell:	embryo
17	chr11:5905350-5905400	LNCaP	prostate:	n/a
18	chr11:5905892-5905942	LNCaP	prostate:	n/a
19	chr11:5905892-5905942	T-47D	breast:	n/a
20	chr11:5905350-5905400	NB4	blood:	n/a
21	chr11:5905350-5905400	ECC-1	luminal epithelium:	n/a
22	chr11:5905350-5905400	AG04450	lung:	fetal
23	chr11:5905892-5905942	HRCEpiC	kidney:	n/a
24	chr11:5905350-5905400	HCT-116	colon:	n/a
25	chr11:5905892-5905942	MCF-7	breast:	n/a
26	chr11:5905350-5905400	HepG2	liver:	n/a
27	chr11:5905350-5905400	ovcar-3	ovarian:	n/a
28	chr11:5905350-5905400	HAEpiC	amniotic membrane:	n/a
29	chr11:5905350-5905400	AG09309	skin:	n/a
30	chr11:5905892-5905942	HCM	heart:	n/a
31	chr11:5905892-5905942	HepG2	liver:	n/a
32	chr11:5905350-5905400	RPTEC	kidney:	n/a
33	chr11:5905892-5905942	HIPEpiC	eye:	n/a
34	chr11:5905350-5905400	U87	brain:	n/a
35	chr11:5905350-5905400	AG09319	gingival:	n/a
36	chr11:5905350-5905400	HEEpiC	esophagus:	n/a
37	chr11:5905892-5905942	GM12892	blood:	n/a
38	chr11:5905892-5905942	HNPCEpiC	eye:	n/a
39	chr11:5905892-5905942	AG09319	gingival:	n/a
40	chr11:5905892-5905942	AoSMC	blood vessel:	n/a
41	chr11:5905892-5905942	HUVEC	blood vessel:	n/a
42	chr11:5905892-5905942	NB4	blood:	n/a
43	chr11:5905350-5905400	ProgFib	skin:	n/a
44	chr11:5905892-5905942	AG04449	skin:	fetal
45	chr11:5905350-5905400	Hepatocyte	liver:	n/a
46	chr11:5905350-5905400	SK-N-SH	brain:	n/a
47	chr11:5905892-5905942	HEK293	kidney:	embryo
48	chr11:5905350-5905400	PFSK-1	brain:	n/a
49	chr11:5905350-5905400	MCF-7	breast:	n/a
50	chr11:5905350-5905400	IMR90	lung:	fetal

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:5887307..5889466-chr11:5893246..5895827,2	K562	blood:
2	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:
3	chr11:5892127..5895108-chr11:5895655..5898478,2	K562	blood:
4	chr11:5829421..5830302-chr11:5912492..5913020,2	MCF-7	breast:
5	chr11:5877485..5879588-chr11:5881678..5883680,2	K562	blood:
6	chr11:5497062..5497678-chr11:5912161..5912734,2	MCF-7	breast:
7	chr11:5884568..5886582-chr11:5891480..5894269,2	K562	blood:
8	chr11:5913304..5915785-chr11:5921263..5923337,2	K562	blood:

No data

Variant related genes	Relation type
OR52E4	TF binding region
TRIM5	TF binding region
OR52E8	TF binding region
OR52E7P	TF binding region
OR52E4	CpG island
TRIM5	CpG island
OR52E8	CpG island
OR52E7P	CpG island
ENSG00000233563	chromatin interactions
ENSG00000132256	chromatin interactions
ENSG00000183269	chromatin interactions

Extended variants
information (count: 700 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:700 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529191612	chr11:5882403-5882404	Inactive region	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs188478878	chr11:5882444-5882445	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs147088522	chr11:5882459-5882460	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539120024	chr11:5882469-5882470	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs191370653	chr11:5882530-5882531	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs10742818	chr11:5882535-5882536	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs533758371	chr11:5882536-5882537	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs555113011	chr11:5882538-5882539	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs138364268	chr11:5882582-5882583	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs371256698	chr11:5882637-5882638	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs542548279	chr11:5882705-5882706	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557542444	chr11:5882713-5882714	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs143921013	chr11:5882751-5882752	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs183201880	chr11:5882761-5882762	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs564583114	chr11:5882778-5882779	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs372025338	chr11:5882796-5882797	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs528625546	chr11:5882804-5882805	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs144303898	chr11:5882809-5882810	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs534437229	chr11:5882824-5882825	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs148293178	chr11:5882866-5882867	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs529108297	chr11:5882884-5882885	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs141440174	chr11:5882969-5882970	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs187861013	chr11:5882976-5882977	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs574390043	chr11:5883020-5883021	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550903397	chr11:5883092-5883093	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs551312856	chr11:5883097-5883098	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs72896167	chr11:5883099-5883100	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs376311811	chr11:5883105-5883106	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs548922339	chr11:5883167-5883168	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs543264468	chr11:5883169-5883170	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs374623254	chr11:5883194-5883195	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs192156907	chr11:5883195-5883196	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs150795286	chr11:5883199-5883200	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs557701750	chr11:5883200-5883201	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs576036169	chr11:5883204-5883205	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs59560564	chr11:5883211-5883212	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs2880548	chr11:5883218-5883219	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs112525821	chr11:5883251-5883252	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs182236303	chr11:5883253-5883254	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs561722612	chr11:5883270-5883271	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs139414955	chr11:5883283-5883284	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs144082848	chr11:5883307-5883308	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs565023940	chr11:5883347-5883348	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs376550016	chr11:5883355-5883356	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562419124	chr11:5883356-5883357	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs187616457	chr11:5883399-5883400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs551542022	chr11:5883421-5883422	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs2880549	chr11:5883446-5883447	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs527332213	chr11:5883465-5883466	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs540871102	chr11:5883488-5883489	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Neuroblastoma	18923191	CNVD
Breast cancer	19432969	CNVD
Alzheimer''s disease	17576883	CNVD
Long-qt syndrome	17576883	CNVD
Emphysema	19352772	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chordoma	18071362	CNVD
Breast cancer	16608533	CNVD
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Neuroblastoma	21124317	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Schizophrenia	21399695	CNVD
Gastric cancer	16891809	CNVD
Cancer	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	23613489	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Type 2 diabetes	21526130	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5920600-5921200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr11:5920800-5921200	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr11:5920800-5921200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:5920800-5921200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:5920800-5921400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr11:5924800-5927600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr11:5927600-5927800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:5944000-5944600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:5944000-5944600	Enhancers	A549	lung
10	chr11:5944000-5944800	Enhancers	GM12878-XiMat	blood
11	chr11:5944000-5945000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:5944000-5945200	Enhancers	NHEK	skin
13	chr11:5944000-5945400	Enhancers	HMEC	breast
14	chr11:5944200-5945000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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